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PLoS Genetics

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https://www.readbyqxmd.com/read/28339470/meiotic-recombination-modulates-the-structure-and-dynamics-of-the-synaptonemal-complex-during-c-elegans-meiosis
#1
Divya Pattabiraman, Baptiste Roelens, Alexander Woglar, Anne M Villeneuve
During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic program in the nematode C. elegans, revealing dynamic properties of the SC that are modulated by recombination. We demonstrate that the SC incorporates new subunits and switches from a more highly dynamic/labile state to a more stable state as germ cells progress through the pachytene stage of meiotic prophase...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28339467/a-non-canonical-rna-degradation-pathway-suppresses-rnai-dependent-epimutations-in-the-human-fungal-pathogen-mucor-circinelloides
#2
Silvia Calo, Francisco E Nicolás, Soo Chan Lee, Ana Vila, Maria Cervantes, Santiago Torres-Martinez, Rosa M Ruiz-Vazquez, Maria E Cardenas, Joseph Heitman
Mucorales are a group of basal fungi that includes the casual agents of the human emerging disease mucormycosis. Recent studies revealed that these pathogens activate an RNAi-based pathway to rapidly generate drug-resistant epimutant strains when exposed to stressful compounds such as the antifungal drug FK506. To elucidate the molecular mechanism of this epimutation pathway, we performed a genetic analysis in Mucor circinelloides that revealed an inhibitory role for the non-canonical RdRP-dependent Dicer-independent silencing pathway, which is an RNAi-based mechanism involved in mRNA degradation that was recently identified...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#3
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301481/colec10-is-mutated-in-3mc-patients-and-regulates-early-craniofacial-development
#4
Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-Hernandez
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families...
March 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301472/independent-introductions-and-admixtures-have-contributed-to-adaptation-of-european-maize-and-its-american-counterparts
#5
Jean-Tristan Brandenburg, Tristan Mary-Huard, Guillem Rigaill, Sarah J Hearne, Hélène Corti, Johann Joets, Clémentine Vitte, Alain Charcosset, Stéphane D Nicolas, Maud I Tenaillon
Through the local selection of landraces, humans have guided the adaptation of crops to a vast range of climatic and ecological conditions. This is particularly true of maize, which was domesticated in a restricted area of Mexico but now displays one of the broadest cultivated ranges worldwide. Here, we sequenced 67 genomes with an average sequencing depth of 18x to document routes of introduction, admixture and selective history of European maize and its American counterparts. To avoid the confounding effects of recent breeding, we targeted germplasm (lines) directly derived from landraces...
March 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301469/global-analysis-of-translation-termination-in-e-coli
#6
Natalie E Baggett, Yan Zhang, Carol A Gross
Terminating protein translation accurately and efficiently is critical for both protein fidelity and ribosome recycling for continued translation. The three bacterial release factors (RFs) play key roles: RF1 and 2 recognize stop codons and terminate translation; and RF3 promotes disassociation of bound release factors. Probing release factors mutations with reporter constructs containing programmed frameshifting sequences or premature stop codons had revealed a propensity for readthrough or frameshifting at these specific sites, but their effects on translation genome-wide have not been examined...
March 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301465/an-smc-like-protein-binds-and-regulates-caenorhabditis-elegans-condensins
#7
Lucy Fang-I Chao, Meha Singh, James Thompson, John R Yates, Kirsten A Hagstrom
Structural Maintenance of Chromosomes (SMC) family proteins participate in multisubunit complexes that govern chromosome structure and dynamics. SMC-containing condensin complexes create chromosome topologies essential for mitosis/meiosis, gene expression, recombination, and repair. Many eukaryotes have two condensin complexes (I and II); C. elegans has three (I, II, and the X-chromosome specialized condensin IDC) and their regulation is poorly understood. Here we identify a novel SMC-like protein, SMCL-1, that binds to C...
March 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28296893/hnrnp-i-regulates-neonatal-immune-adaptation-and-prevents-colitis-and-colorectal-cancer
#8
Zhigang Jin, Feng Liang, Jing Yang, Wenyan Mei
The intestinal epithelium plays a critical role in host-microbe homeostasis by sensing gut microbes and subsequently initiating proper immune responses. During the neonatal stage, the intestinal epithelium is under immune repression, allowing the transition for newborns from a relatively sterile intra-uterine environment to one that is rich in foreign antigens. The mechanism underlying such immune repression remains largely unclear, but involves downregulation of IRAK1 (interleukin-1 receptor-associated kinase), an essential component of toll-like receptor-mediated NF-κB signaling...
March 15, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28263985/robust-stratification-of-breast-cancer-subtypes-using-differential-patterns-of-transcript-isoform-expression
#9
Thomas P Stricker, Christopher D Brown, Chaitanya Bandlamudi, Megan McNerney, Ralf Kittler, Vanessa Montoya, April Peterson, Robert Grossman, Kevin P White
Breast cancer, the second leading cause of cancer death of women worldwide, is a heterogenous disease with multiple different subtypes. These subtypes carry important implications for prognosis and therapy. Interestingly, it is known that these different subtypes not only have different biological behaviors, but also have distinct gene expression profiles. However, it has not been rigorously explored whether particular transcriptional isoforms are also differentially expressed among breast cancer subtypes, or whether transcript isoforms from the same sets of genes can be used to differentiate subtypes...
March 6, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28333934/visualizing-the-structure-of-rna-seq-expression-data-using-grade-of-membership-models
#10
Kushal K Dey, Chiaowen Joyce Hsiao, Matthew Stephens
Grade of membership models, also known as "admixture models", "topic models" or "Latent Dirichlet Allocation", are a generalization of cluster models that allow each sample to have membership in multiple clusters. These models are widely used in population genetics to model admixed individuals who have ancestry from multiple "populations", and in natural language processing to model documents having words from multiple "topics". Here we illustrate the potential for these models to cluster samples of RNA-seq gene expression data, measured on either bulk samples or single cells...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28333924/csl-encodes-a-leucine-rich-repeat-protein-implicated-in-red-violet-light-signaling-to-the-circadian-clock-in-chlamydomonas
#11
Ayumi Kinoshita, Yoshimi Niwa, Kiyoshi Onai, Takashi Yamano, Hideya Fukuzawa, Masahiro Ishiura, Takuya Matsuo
The green alga Chlamydomonas reinhardtii shows various light responses in behavior and physiology. One such photoresponse is the circadian clock, which can be reset by external light signals to entrain its oscillation to daily environmental cycles. In a previous report, we suggested that a light-induced degradation of the clock protein ROC15 is a trigger to reset the circadian clock in Chlamydomonas. However, light signaling pathways of this process remained unclear. Here, we screened for mutants that show abnormal ROC15 diurnal rhythms, including the light-induced protein degradation at dawn, using a luciferase fusion reporter...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28319138/plos-genetics-2016-reviewer-and-editorial-board-thank-you
#12
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301508/the-social-genome-current-findings-and-implications-for-the-study-of-human-genetics
#13
Benjamin W Domingue, Daniel W Belsky
No abstract text is available yet for this article.
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301478/retrotransposon-activation-contributes-to-neurodegeneration-in-a-drosophila-tdp-43-model-of-als
#14
Lisa Krug, Nabanita Chatterjee, Rebeca Borges-Monroy, Stephen Hearn, Wen-Wei Liao, Kathleen Morrill, Lisa Prazak, Nikolay Rozhkov, Delphine Theodorou, Molly Hammell, Josh Dubnau
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two incurable neurodegenerative disorders that exist on a symptomological spectrum and share both genetic underpinnings and pathophysiological hallmarks. Functional abnormality of TAR DNA-binding protein 43 (TDP-43), an aggregation-prone RNA and DNA binding protein, is observed in the vast majority of both familial and sporadic ALS cases and in ~40% of FTLD cases, but the cascade of events leading to cell death are not understood...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301464/investigating-the-case-of-human-nose-shape-and-climate-adaptation
#15
Arslan A Zaidi, Brooke C Mattern, Peter Claes, Brian McEcoy, Cris Hughes, Mark D Shriver
The evolutionary reasons for variation in nose shape across human populations have been subject to continuing debate. An import function of the nose and nasal cavity is to condition inspired air before it reaches the lower respiratory tract. For this reason, it is thought the observed differences in nose shape among populations are not simply the result of genetic drift, but may be adaptations to climate. To address the question of whether local adaptation to climate is responsible for nose shape divergence across populations, we use Qst-Fst comparisons to show that nares width and alar base width are more differentiated across populations than expected under genetic drift alone...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28288153/correction-telomerase-is-required-for-zebrafish-lifespan
#16
Catarina M Henriques, Madalena C Carneiro, Inês M Tenente, António Jacinto, Miguel Godinho Ferreira
[This corrects the article DOI: 10.1371/journal.pgen.1003214.].
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28282384/adaptation-of-a-to-i-rna-editing-in-drosophila
#17
Yuange Duan, Shengqian Dou, Shiqi Luo, Hong Zhang, Jian Lu
Adenosine-to-inosine (A-to-I) editing is hypothesized to facilitate adaptive evolution by expanding proteomic diversity through an epigenetic approach. However, it is challenging to provide evidences to support this hypothesis at the whole editome level. In this study, we systematically characterized 2,114 A-to-I RNA editing sites in female and male brains of D. melanogaster, and nearly half of these sites had events evolutionarily conserved across Drosophila species. We detected strong signatures of positive selection on the nonsynonymous editing sites in Drosophila brains, and the beneficial editing sites were significantly enriched in genes related to chemical and electrical neurotransmission...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28282383/shared-regulatory-sites-are-abundant-in-the-human-genome-and-shed-light-on-genome-evolution-and-disease-pleiotropy
#18
Pin Tong, Jack Monahan, James G D Prendergast
Large-scale gene expression datasets are providing an increasing understanding of the location of cis-eQTLs in the human genome and their role in disease. However, little is currently known regarding the extent of regulatory site-sharing between genes. This is despite it having potentially wide-ranging implications, from the determination of the way in which genetic variants may shape multiple phenotypes to the understanding of the evolution of human gene order. By first identifying the location of non-redundant cis-eQTLs, we show that regulatory site-sharing is a relatively common phenomenon in the human genome, with over 10% of non-redundant regulatory variants linked to the expression of multiple nearby genes...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28282382/population-genetic-analysis-of-the-darc-locus-duffy-reveals-adaptation-from-standing-variation-associated-with-malaria-resistance-in-humans
#19
Kimberly F McManus, Angela M Taravella, Brenna M Henn, Carlos D Bustamante, Martin Sikora, Omar E Cornejo
The human DARC (Duffy antigen receptor for chemokines) gene encodes a membrane-bound chemokine receptor crucial for the infection of red blood cells by Plasmodium vivax, a major causative agent of malaria. Of the three major allelic classes segregating in human populations, the FY*O allele has been shown to protect against P. vivax infection and is at near fixation in sub-Saharan Africa, while FY*B and FY*A are common in Europe and Asia, respectively. Due to the combination of strong geographic differentiation and association with malaria resistance, DARC is considered a canonical example of positive selection in humans...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28282376/the-transjugation-machinery-of-thermus-thermophilus-identification-of-tdta-an-atpase-involved-in-dna-donation
#20
Alba Blesa, Ignacio Baquedano, Nieves G Quintáns, Carlos P Mata, José R Castón, José Berenguer
In addition to natural competence, some Thermus thermophilus strains show a high rate of DNA transfer via direct cell-to-cell contact. The process is bidirectional and follows a two-step model where the donor cell actively pushes out DNA and the recipient cell employs the natural competence system to take up the DNA, in a hybrid transformation-dependent conjugation process (transjugation). While the DNA uptake machinery is well known as in other bacterial species that undergo transformation, the pushing step of transjugation remains to be characterized...
March 2017: PLoS Genetics
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